Journal of Rare Cardiovascular Diseases

n/a

amyloidosis; light-chain amyloidosis; transthyretin amyloidosis; transthyretin; cardiomyopathy; heart failure

Westermark P, Benson MD, Buxbaum JN, et al. Nomenclature Committee of the International Society of Amyloidosis. Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid. 2005; 12(1): 1–4, doi: 10.1080/13 506 120 500 032 196.

Maleszewski JJ. Cardiac amyloidosis: pathology, nomenclature, and typing. Cardiovasc Pathol 2015; 24:343–350, doi: 10.1016/j.carpath.2015.07.008.

Kadowaki H, Nishitoh H, Urano F, et al. Amyloid beta induces neuronal cell death through ROS‐mediated ASK1 activation. Cell Death Differ. 2005; 12(1): 19–24, doi: 10.1038/sj.cdd.4 401 528.

Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008; 29(2): 270–276, doi: 10.1093/eurheartj/ /ehm342.

Rubiś P, Dziewięcka E, Holcman K, et al. Nowe metody diagnostyki amyloidozy serca. Seria przypadków amyloidozy transtyretynowej. Hematologia 2018; 9(3): 254–264. DOI: 10.5603/Hem.2018.0032.

Łyczkowska‐Piotrowska A, Salomon‐Perzyński A, Końska A , et al .

Doxycycline in the treatment of systemic amyloidosis with car‐

diac involvement. Hematologia 2018; 9(3): 202–207, doi: 10.5603/

Hem.2018.0027.

Sperry BW, Ikram A, Hachamovitch R, et al. Efficacy of chemotherapy for light‐chain amyloidosis in patients presenting with symptomatic heart failure. J Am Coll Cardiol 2016; 67:2941–2948, doi: 10.1016/j.jacc.2016.03.593.

González‐López E, Gallego‐Delgado M, Guzzo‐Merello G, et al. Wild‐type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J. 2015; 36(38): 2585–94, doi: 10.1093/eurheartj/ehv338.

Castano A, Narotsky D,Hamid N, et al. Unveiling transthyretin cardiac amyloidosis and its predictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement. Eur Heart J. 2017; 38(38): 2879–2887, doi: 10.1093/eurheartj/ehx350.

Damy T, Costes B, Hagège AA, et al. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J 2016; 37:1826–34, doi: 10.1093/ eurheartj/ehv583.

Boutsikos I, Ntova M, Tsaroucha A, et al. Amyloid cardiomyopathy: the different facets of a not so rare disease (RCD code III‐3A.1, III‐3A.2). Journal of Rare Cardiovascular Diseases 2019; 4(3):34–41, doi:10.20 418/jrcd.vol4no3.394.

Yamamoto H, Yokochi T. Transthyretin cardiac amyloidosis: an update on diagnosis and treatment. ESC Heart Fail. 2019 [Epub ahead of print], doi: 10.1002/ehf2.12 518.

Holcman K, Kostkiewicz M, Podolec P, et al. Amyloidoza serca — właściwe rozpoznanie i nowe terapie na horyzoncie. Folia Cardiol. 2019; 14(6): 616– 624. doi: 10.5603/FC.2019.0115.

Jamroziak K, Milani P, Puła B, et al. Diagnostyka i leczenie amyloidozy AL. Hematologia. 2018; 9(3): 181–195, doi: 10.5603/ hem.2018.0024.

Adams D, Gonzalez‐Duarte A, O’Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 2018; 379: 11–21, doi: 10.1056/NEJMoa1 716 153.

Minamisawa M, Claggett B, Adams D, et al. Association of patisiran, an RNA interference therapeutic, with regional left ventricular myocardial strain in hereditary transthyretin amyloidosis: the APOLLO study. JAMA Cardiol 2019; 4: 466–472, doi: 10.1001/jamacardio.2019.0849.

Solomon SD, Adams D, Kristen A, et al. Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin‐mediated amyloidosis. Circulation 2019; 139: 431–443, doi: 10.1161/ CIRCULATIONAHA.118.035 831.

Benson MD, Waddington‐Cruz M, Berk JL, et. al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 2018; 379: 22–31, doi: 10.1056/NEJMoa1 716 793.

Coelho T, Maia LF, Martins da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012 Aug 21;79(8):785–92. doi: 10.1212/WNL.0b013e3182661eb1.

Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA 2013; 310: 2658–2667, doi: 10.1001/jama.2013.283 815.

Judge DP, Heitner SB, Falk RH, et al. Transthyretin stabilization by AG10 in symptomatic transthyretin amyloid cardiomyopathy. J Am Coll Cardiol 2019; 74: 285–295, doi: 10.1016/j.jacc.2019.03.012.

Cardoso I, Saraiva MJ. Doxycycline disrupts transthyretin amyloid: evidence from studies in a FAP transgenic mice model. FASEB J 2006; 20: 234–239, doi: 10.1096/fj.05‐4509com.

Obici L, Cortese A, Lozza A, et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 2012; 19: 34–36, doi: 10.3109/13 506 129.2012.678 508.

Perugini E, Guidalotti PL, Salvi F, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc‐3,3‐diphosphono‐1,2‐propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005; 46(6): 1076–1084, doi: 10.1016/j. jacc.2005.05.073.

Bokhari S, Castaño A, Pozniakoff T, et al. (99m)Tc‐pyrophosphate scintigraphy for differentiating light‐chain cardiac amyloidosis from the transthyretin‐related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging. 2013; 6(2): 195–201, doi: 10.1161/ /CIRCIMAGING.112.000 132.

Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016; 133(24): 2404–2412, doi: 10.1161/ CIRCULATIONAHA.116.021 612.